Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B3e76c018b4f241b08dcb85238cf301d5> ?p ?o ?g. }
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- B3e76c018b4f241b08dcb85238cf301d5 hasDbXref "Orphanet:2031" @default.
- B3e76c018b4f241b08dcb85238cf301d5 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B3e76c018b4f241b08dcb85238cf301d5 type Axiom @default.
- B3e76c018b4f241b08dcb85238cf301d5 annotatedProperty IAO_0000115 @default.
- B3e76c018b4f241b08dcb85238cf301d5 annotatedSource MONDO_0008941 @default.
- B3e76c018b4f241b08dcb85238cf301d5 annotatedTarget "A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." @default.